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Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ - Orphanet J Rare Dis (2009)

Bottom Line: Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases.However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery.Life expectancy and cognitive abilities are normal.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA. rtoydemi@genetics.utah.edu

ABSTRACT
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.

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Clinical features of Sheldon-Hall syndrome. Note the pointed chin, long philtrum, prominent nasolabial folds, downslanted palpebral fissures, attached ear lobes. She also has camptodactyly and ulnar deviation at the wrist. The right foot was casted to treat talipes equinovarus.
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Figure 1: Clinical features of Sheldon-Hall syndrome. Note the pointed chin, long philtrum, prominent nasolabial folds, downslanted palpebral fissures, attached ear lobes. She also has camptodactyly and ulnar deviation at the wrist. The right foot was casted to treat talipes equinovarus.

Mentions: The major clinical features of SHS are summarized in Table 1. The clinical presentation is highly variable both within and between families. Still, in most cases the clinical diagnosis of SHS is based on the pattern of contractures observed at birth, which are usually limited to hands and feet. Most patients have camptodactyly, ulnar deviation and/or overlapping of the fingers, a narrow and triangular face, and overlapping toes (Figure 1). The contractures are virtually always worse at birth and non-progressive.


Sheldon-Hall syndrome.

Toydemir RM, Bamshad MJ - Orphanet J Rare Dis (2009)

Clinical features of Sheldon-Hall syndrome. Note the pointed chin, long philtrum, prominent nasolabial folds, downslanted palpebral fissures, attached ear lobes. She also has camptodactyly and ulnar deviation at the wrist. The right foot was casted to treat talipes equinovarus.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2663550&req=5

Figure 1: Clinical features of Sheldon-Hall syndrome. Note the pointed chin, long philtrum, prominent nasolabial folds, downslanted palpebral fissures, attached ear lobes. She also has camptodactyly and ulnar deviation at the wrist. The right foot was casted to treat talipes equinovarus.
Mentions: The major clinical features of SHS are summarized in Table 1. The clinical presentation is highly variable both within and between families. Still, in most cases the clinical diagnosis of SHS is based on the pattern of contractures observed at birth, which are usually limited to hands and feet. Most patients have camptodactyly, ulnar deviation and/or overlapping of the fingers, a narrow and triangular face, and overlapping toes (Figure 1). The contractures are virtually always worse at birth and non-progressive.

Bottom Line: Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases.However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery.Life expectancy and cognitive abilities are normal.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA. rtoydemi@genetics.utah.edu

ABSTRACT
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth and non-progressive. SHS is inherited in an autosomal dominant pattern but about half the cases are sporadic. Mutations in either MYH3, TNNI2, or TNNT3 have been found in about 50% of cases. These genes encode proteins of the contractile apparatus of fast twitch skeletal muscle fibers. The diagnosis of SHS is based on clinical criteria. Mutation analysis is useful to distinguish SHS from arthrogryposis syndromes with similar features (e.g. distal arthrogryposis 1 and Freeman-Sheldon syndrome). Prenatal diagnosis by ultrasonography is feasible at 18-24 weeks of gestation. If the family history is positive and the mutation is known in the family, prenatal molecular genetic diagnosis is possible. There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal.

Show MeSH
Related in: MedlinePlus